Hereditary neuropathyGene: MTTP
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.
Causes a progressive sensory neuropathy related to vitamin E deficiency as part of a complex multisystem disorder
Created: 20 May 2019, 6:26 p.m.
Not a CMT gene
Created: 9 Dec 2015, 8:49 a.m.
Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.
Phenotypes for gene: MTTP were changed from Hereditary Neuropathies to Hereditary Neuropathies; Abetalipoproteinemia, 200100
Mode of inheritance for gene: MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to MTTP. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source London North GLH was added to MTTP.
Publications for gene: MTTP were set to
Added phenotypes Hereditary Neuropathies for gene: MTTP
Source NHS GMS was added to MTTP.
Source South West GLH was added to MTTP.
MTTP was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory